Mutagenetix > Incidental Mutation

Incidental Mutation 'R6385:Zfp318'

515581

Institutional Source

Beutler Lab

Gene Symbol

Zfp318

Ensembl Gene

ENSMUSG00000015597

Gene Name

zinc finger protein 318

Synonyms

2610034E08Rik, TZF, D530032D06Rik

MMRRC Submission

044534-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6385 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46694657-46731846 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46721932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1312 (K1312E)

Ref Sequence

ENSEMBL: ENSMUSP00000109109 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113481] [ENSMUST00000138127] [ENSMUST00000152472]

AlphaFold

Q99PP2

Predicted Effect

probably damaging
Transcript: ENSMUST00000113481
AA Change: K1312E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109109
Gene: ENSMUSG00000015597
AA Change: K1312E

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	30	127	N/A	INTRINSIC
low complexity region	150	169	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
low complexity region	291	304	N/A	INTRINSIC
coiled coil region	348	376	N/A	INTRINSIC
SCOP:d1eq1a_	916	995	2e-4	SMART
low complexity region	1018	1055	N/A	INTRINSIC
ZnF_U1	1085	1119	5.99e-7	SMART
ZnF_C2H2	1088	1112	4.5e1	SMART
ZnF_U1	1155	1189	2.1e-11	SMART
ZnF_C2H2	1158	1180	4.62e1	SMART
low complexity region	1225	1238	N/A	INTRINSIC
low complexity region	1358	1371	N/A	INTRINSIC
low complexity region	1640	1651	N/A	INTRINSIC
Blast:HNHc	1660	1710	3e-17	BLAST
low complexity region	2001	2013	N/A	INTRINSIC
low complexity region	2110	2121	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123733

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136017

Predicted Effect

probably benign
Transcript: ENSMUST00000138127

SMART Domains

Protein: ENSMUSP00000116544
Gene: ENSMUSG00000015597

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	30	127	N/A	INTRINSIC
low complexity region	150	169	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
low complexity region	291	304	N/A	INTRINSIC
coiled coil region	348	376	N/A	INTRINSIC
Blast:HOLI	854	1114	8e-19	BLAST
SCOP:d1eq1a_	916	995	6e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152472

SMART Domains

Protein: ENSMUSP00000116132
Gene: ENSMUSG00000015597

Domain	Start	End	E-Value	Type
coiled coil region	3	30	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

98% (55/56)

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit reduced male fertility and altered IgM and IgD levels. Null mutants displayed normal level of circulating B cells with decreased IgD and increased IgM levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,236 (GRCm39)	M910L	probably benign	Het
Abca9	T	A	11: 110,025,080 (GRCm39)	I988F	probably damaging	Het
Adgra2	A	T	8: 27,608,878 (GRCm39)	S92C	probably damaging	Het
Apon	A	G	10: 128,090,223 (GRCm39)		probably benign	Het
Arap3	G	A	18: 38,130,084 (GRCm39)	R26*	probably null	Het
Btnl6	T	G	17: 34,727,343 (GRCm39)	I396L	probably benign	Het
Catsper3	G	T	13: 55,934,239 (GRCm39)	Q53H	probably damaging	Het
Cep164	T	G	9: 45,691,081 (GRCm39)	E372A	probably damaging	Het
Cln3	A	T	7: 126,174,207 (GRCm39)	C339S	probably null	Het
Cntnap2	G	A	6: 46,833,114 (GRCm39)	D776N	probably benign	Het
Cttnbp2nl	A	G	3: 104,912,952 (GRCm39)	F311L	probably benign	Het
Daam2	C	T	17: 49,770,964 (GRCm39)	A918T	probably damaging	Het
Dst	T	C	1: 34,346,549 (GRCm39)	V7353A	possibly damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fanca	A	T	8: 124,032,606 (GRCm39)		probably null	Het
Filip1	G	T	9: 79,727,813 (GRCm39)	Q269K	possibly damaging	Het
Fut9	G	A	4: 25,620,328 (GRCm39)	S162L	probably damaging	Het
Gtf2ird1	A	T	5: 134,433,544 (GRCm39)	H294Q	probably benign	Het
Gucy1a1	A	G	3: 82,016,313 (GRCm39)	I225T	probably benign	Het
H2-DMb1	T	A	17: 34,374,576 (GRCm39)	N75K	probably benign	Het
Helz2	C	T	2: 180,875,260 (GRCm39)	E1745K	probably damaging	Het
Hes1	A	G	16: 29,884,424 (GRCm39)	M6V	possibly damaging	Het
Hydin	A	T	8: 111,038,856 (GRCm39)	H198L	possibly damaging	Het
Iars1	T	C	13: 49,855,371 (GRCm39)	L266P	probably damaging	Het
Ifna11	A	G	4: 88,738,386 (GRCm39)	E64G	probably damaging	Het
Inpp5d	T	A	1: 87,627,397 (GRCm39)	L566Q	probably damaging	Het
Kcnh3	T	C	15: 99,125,822 (GRCm39)	S160P	probably benign	Het
Lama5	T	C	2: 179,838,326 (GRCm39)	T850A	probably damaging	Het
Lgi3	A	G	14: 70,768,610 (GRCm39)	T36A	possibly damaging	Het
Lrp2	T	C	2: 69,326,128 (GRCm39)	S1810G	probably benign	Het
Lypd10	A	T	7: 24,413,535 (GRCm39)	I184F	probably damaging	Het
Msln	T	A	17: 25,970,115 (GRCm39)	D280V	probably benign	Het
Myh4	A	T	11: 67,146,663 (GRCm39)	I1513F	probably damaging	Het
Ncf2	A	T	1: 152,706,173 (GRCm39)	M262L	probably benign	Het
Neb	G	T	2: 52,075,311 (GRCm39)	A218D	probably damaging	Het
Notch4	C	A	17: 34,792,788 (GRCm39)	Q640K	probably null	Het
Or4f7	T	C	2: 111,644,964 (GRCm39)	I36V	probably benign	Het
Or52e19b	A	T	7: 103,033,104 (GRCm39)	V35D	possibly damaging	Het
Or6k6	A	T	1: 173,944,862 (GRCm39)	F240Y	probably damaging	Het
Pear1	G	T	3: 87,661,506 (GRCm39)	H562N	probably benign	Het
Poli	C	A	18: 70,663,072 (GRCm39)		probably benign	Het
Ppp3r2	A	G	4: 49,681,767 (GRCm39)	I61T	possibly damaging	Het
Rfc5	T	C	5: 117,523,463 (GRCm39)	T112A	probably benign	Het
Serhl	A	G	15: 82,985,823 (GRCm39)	T5A	probably benign	Het
Shank3	T	C	15: 89,405,578 (GRCm39)		probably null	Het
Slc22a28	A	G	19: 8,078,844 (GRCm39)	S282P	probably damaging	Het
Slc2a12	C	T	10: 22,569,929 (GRCm39)	T540I	possibly damaging	Het
Slurp2	T	C	15: 74,618,524 (GRCm39)	M1V	probably null	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Tln2	C	T	9: 67,185,411 (GRCm39)	A700T	probably benign	Het
Ttn	C	T	2: 76,748,192 (GRCm39)	V4286I	probably benign	Het
Ube2u	A	G	4: 100,389,341 (GRCm39)	K214R	possibly damaging	Het
Vmn1r46	A	G	6: 89,953,427 (GRCm39)	H92R	probably damaging	Het
Wdr90	A	G	17: 26,067,504 (GRCm39)	I1486T	probably damaging	Het
Zc3h11a	A	T	1: 133,565,192 (GRCm39)	S236T	possibly damaging	Het
Zfp930	A	G	8: 69,681,283 (GRCm39)	Y326C	probably damaging	Het
Zfp972	G	T	2: 177,563,588 (GRCm39)	D8E	probably damaging	Het

Other mutations in Zfp318

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00705:Zfp318	APN	17	46,723,398 (GRCm39)	missense	probably benign	0.01
IGL00978:Zfp318	APN	17	46,724,652 (GRCm39)	missense	possibly damaging	0.64
IGL01016:Zfp318	APN	17	46,711,003 (GRCm39)	missense	probably damaging	1.00
IGL01310:Zfp318	APN	17	46,724,153 (GRCm39)	missense	possibly damaging	0.81
IGL01453:Zfp318	APN	17	46,719,942 (GRCm39)	splice site	probably null
IGL01887:Zfp318	APN	17	46,710,094 (GRCm39)	missense	probably benign	0.07
IGL02025:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02026:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02070:Zfp318	APN	17	46,707,644 (GRCm39)	missense	probably damaging	1.00
IGL02182:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02187:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02188:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02189:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02190:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02191:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02192:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02203:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02224:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02230:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02231:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02232:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02233:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02234:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02412:Zfp318	APN	17	46,720,043 (GRCm39)	nonsense	probably null
IGL02792:Zfp318	APN	17	46,720,104 (GRCm39)	missense	probably damaging	1.00
IGL02826:Zfp318	APN	17	46,709,680 (GRCm39)	missense	probably damaging	1.00
Wonton	UTSW	17	46,720,618 (GRCm39)	missense	possibly damaging	0.89
I0000:Zfp318	UTSW	17	46,710,485 (GRCm39)	missense	probably damaging	1.00
R0206:Zfp318	UTSW	17	46,709,945 (GRCm39)	missense	probably benign	0.07
R0240:Zfp318	UTSW	17	46,707,739 (GRCm39)	missense	probably benign	0.00
R0240:Zfp318	UTSW	17	46,707,739 (GRCm39)	missense	probably benign	0.00
R0281:Zfp318	UTSW	17	46,723,540 (GRCm39)	missense	probably benign	0.05
R0350:Zfp318	UTSW	17	46,724,124 (GRCm39)	missense	probably benign	0.00
R0383:Zfp318	UTSW	17	46,724,222 (GRCm39)	missense	probably damaging	0.99
R0453:Zfp318	UTSW	17	46,707,634 (GRCm39)	missense	probably damaging	0.96
R1014:Zfp318	UTSW	17	46,723,462 (GRCm39)	nonsense	probably null
R1166:Zfp318	UTSW	17	46,720,618 (GRCm39)	missense	possibly damaging	0.89
R1208:Zfp318	UTSW	17	46,723,446 (GRCm39)	unclassified	probably benign
R1208:Zfp318	UTSW	17	46,723,446 (GRCm39)	unclassified	probably benign
R1327:Zfp318	UTSW	17	46,724,189 (GRCm39)	missense	probably damaging	1.00
R1330:Zfp318	UTSW	17	46,724,684 (GRCm39)	missense	possibly damaging	0.90
R1737:Zfp318	UTSW	17	46,710,403 (GRCm39)	missense	probably benign	0.35
R1800:Zfp318	UTSW	17	46,722,980 (GRCm39)	missense	probably benign	0.00
R1846:Zfp318	UTSW	17	46,724,592 (GRCm39)	missense	probably benign	0.00
R1848:Zfp318	UTSW	17	46,716,981 (GRCm39)	missense	possibly damaging	0.92
R1861:Zfp318	UTSW	17	46,722,366 (GRCm39)	missense	possibly damaging	0.92
R1913:Zfp318	UTSW	17	46,723,450 (GRCm39)	unclassified	probably benign
R1913:Zfp318	UTSW	17	46,723,440 (GRCm39)	unclassified	probably benign
R2059:Zfp318	UTSW	17	46,707,950 (GRCm39)	missense	probably damaging	0.99
R2085:Zfp318	UTSW	17	46,720,590 (GRCm39)	splice site	probably null
R2122:Zfp318	UTSW	17	46,724,297 (GRCm39)	missense	probably benign	0.01
R2339:Zfp318	UTSW	17	46,710,389 (GRCm39)	missense	probably benign	0.01
R4526:Zfp318	UTSW	17	46,723,284 (GRCm39)	missense	probably benign	0.00
R4564:Zfp318	UTSW	17	46,723,741 (GRCm39)	missense	possibly damaging	0.77
R4689:Zfp318	UTSW	17	46,710,560 (GRCm39)	missense	probably damaging	0.99
R4795:Zfp318	UTSW	17	46,722,988 (GRCm39)	missense	probably benign	0.07
R5256:Zfp318	UTSW	17	46,722,995 (GRCm39)	missense	probably benign	0.19
R5317:Zfp318	UTSW	17	46,723,463 (GRCm39)	unclassified	probably benign
R5323:Zfp318	UTSW	17	46,697,662 (GRCm39)	missense	probably damaging	0.99
R5436:Zfp318	UTSW	17	46,723,975 (GRCm39)	missense	possibly damaging	0.95
R5485:Zfp318	UTSW	17	46,723,180 (GRCm39)	missense	possibly damaging	0.81
R5627:Zfp318	UTSW	17	46,724,062 (GRCm39)	missense	probably damaging	1.00
R5643:Zfp318	UTSW	17	46,720,170 (GRCm39)	intron	probably benign
R5782:Zfp318	UTSW	17	46,723,440 (GRCm39)	unclassified	probably benign
R5783:Zfp318	UTSW	17	46,723,440 (GRCm39)	unclassified	probably benign
R5820:Zfp318	UTSW	17	46,723,699 (GRCm39)	missense	probably benign
R5895:Zfp318	UTSW	17	46,709,959 (GRCm39)	missense	probably damaging	1.00
R6189:Zfp318	UTSW	17	46,723,440 (GRCm39)	unclassified	probably benign
R6428:Zfp318	UTSW	17	46,710,262 (GRCm39)	missense	probably damaging	1.00
R6471:Zfp318	UTSW	17	46,710,431 (GRCm39)	missense	probably benign	0.05
R6666:Zfp318	UTSW	17	46,720,140 (GRCm39)	missense	probably benign	0.01
R6812:Zfp318	UTSW	17	46,723,468 (GRCm39)	unclassified	probably benign
R6852:Zfp318	UTSW	17	46,723,464 (GRCm39)	unclassified	probably benign
R6852:Zfp318	UTSW	17	46,723,459 (GRCm39)	unclassified	probably benign
R6852:Zfp318	UTSW	17	46,723,460 (GRCm39)	unclassified	probably benign
R6854:Zfp318	UTSW	17	46,723,468 (GRCm39)	unclassified	probably benign
R6980:Zfp318	UTSW	17	46,708,138 (GRCm39)	missense	probably damaging	1.00
R6999:Zfp318	UTSW	17	46,710,969 (GRCm39)	missense	probably damaging	1.00
R7164:Zfp318	UTSW	17	46,716,865 (GRCm39)	missense	probably damaging	1.00
R7164:Zfp318	UTSW	17	46,708,232 (GRCm39)	critical splice donor site	probably null
R7175:Zfp318	UTSW	17	46,697,774 (GRCm39)	missense	probably damaging	1.00
R7233:Zfp318	UTSW	17	46,716,978 (GRCm39)	missense	probably damaging	0.99
R7339:Zfp318	UTSW	17	46,722,173 (GRCm39)	missense	probably damaging	0.99
R7426:Zfp318	UTSW	17	46,710,995 (GRCm39)	missense	probably damaging	1.00
R7600:Zfp318	UTSW	17	46,695,210 (GRCm39)	missense	possibly damaging	0.86
R7608:Zfp318	UTSW	17	46,710,935 (GRCm39)	missense	probably damaging	0.96
R7779:Zfp318	UTSW	17	46,710,820 (GRCm39)	missense	probably benign	0.16
R8057:Zfp318	UTSW	17	46,710,692 (GRCm39)	missense	possibly damaging	0.72
R8273:Zfp318	UTSW	17	46,723,301 (GRCm39)	missense	probably damaging	1.00
R8274:Zfp318	UTSW	17	46,723,915 (GRCm39)	missense	probably benign
R8695:Zfp318	UTSW	17	46,723,576 (GRCm39)	missense	probably benign	0.01
R8822:Zfp318	UTSW	17	46,723,831 (GRCm39)	missense	probably benign	0.00
R8851:Zfp318	UTSW	17	46,710,761 (GRCm39)	missense	probably damaging	1.00
R8913:Zfp318	UTSW	17	46,722,699 (GRCm39)	missense	probably benign	0.07
R8953:Zfp318	UTSW	17	46,731,356 (GRCm39)	missense	probably benign	0.38
R9031:Zfp318	UTSW	17	46,723,433 (GRCm39)	missense	probably benign	0.15
R9327:Zfp318	UTSW	17	46,721,892 (GRCm39)	missense	probably damaging	1.00
R9329:Zfp318	UTSW	17	46,722,139 (GRCm39)	missense	probably damaging	1.00
R9352:Zfp318	UTSW	17	46,721,284 (GRCm39)	missense	probably damaging	1.00
R9633:Zfp318	UTSW	17	46,710,421 (GRCm39)	missense	probably damaging	0.99
R9662:Zfp318	UTSW	17	46,724,383 (GRCm39)	missense	probably damaging	1.00
R9728:Zfp318	UTSW	17	46,707,713 (GRCm39)	missense	probably benign	0.10
R9755:Zfp318	UTSW	17	46,722,055 (GRCm39)	missense	probably damaging	1.00
X0026:Zfp318	UTSW	17	46,721,564 (GRCm39)	missense	possibly damaging	0.89
X0054:Zfp318	UTSW	17	46,723,535 (GRCm39)	missense	possibly damaging	0.79
X0065:Zfp318	UTSW	17	46,721,915 (GRCm39)	missense	probably benign	0.01
Z1176:Zfp318	UTSW	17	46,716,904 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AACTAGAGGAGCAGCTCTCG -3'
(R):5'- GAACCTGACTTGCGGAGTACTG -3'

Sequencing Primer
(F):5'- AGCAGCTCTCGGAGGATG -3'
(R):5'- ATCTTAGTCTGTGTTGAAGTCGTAAC -3'

Posted On

2018-05-04